Assessments of Atherosclerosis and Treatment Strategies for Heterozygous Familial Hypercholesterolemia

Patients with familial hypercholesterolemia (FH) carry an extremely elevated cardiovascular risk because of lifelong exposure to elevated low-density lipoprotein cholesterol (LDL-C). The Japan Atherosclerosis Society (JAS) complies with the clinical guidelines of FH stipulating diagnostic criteria as well as the treatment targets based on their cardiovascular preventive status. These guidelines are expected to improve the FH diagnosis rate and facilitate better LDL-C management, ultimately leading to improved patient outcomes. However, there are no clear instructions on how and when to assess atherosclerosis. In addition, current treatment target goals, especially for adults with heterozygous FH (HeFH) (LDL-C ＜100 mg/dL in primary prevention and LDL-C ＜70 mg/dL in secondary prevention), are sometimes insufficient to fully navigate to prevent cardiovascular events, given that many factors, such as hypertension, diabetes, smoking, lipoprotein (a), cholesterol-year score, coronary artery calcium, and pathogenic mutations are associated with a further increased risk on top of the LDL-C level assessed cross-sectionally. Accordingly, we summarized contemporary strategies for assessing systemic atherosclerosis and treatment options.